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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
112179623
G
T
APC
c.8332G>T
p.Ala2778Ser
rs587778046
chr5
112175770
G
A
APC
c.4479G>A
.
rs41115
chr5
112162854
T
C
APC
c.1458T>C
.
rs2229992
chr5
82815408
G
A
VCAN
c.1283G>A
p.Gly428Asp
rs2287926
chr5
13717471
T
C
DNAH5
c.12658A>G
p.Thr4220Ala
rs2277046
chr5
256483
CTT
C
SDHA
c.1945_1946delTT
p.Leu649fs
rs112307877
chr5
226091
G
A
SDHA
c.550G>A
p.Gly184Arg
rs148246073
chr4
186551624
T
G
SORBS2
c.1034+79A>C
.
rs1471794
chr4
177605081
CTCA
C
VEGFC
c.1256_1258delTGA
p.Met419del
rs3062984;rs397710947;rs5864401
chr4
119948046
A
C
SYNPO2
c.522A>C
p.Gln174His
rs17263971
chr4
119947961
AAAG
A
SYNPO2
c.441_443delAAG
p.Arg147del
rs70944826
chr4
114278277
C
T
ANK2
c.8503C>T
p.Pro2835Ser
rs3733617
chr4
77631425
T
A
SHROOM3
c.440T>A
p.Leu147His
rs3821979
chr3
123457893
G
A
MYLK
c.439C>T
p.Pro147Ser
rs9840993
chr3
123453061
A
G
MYLK
c.782T>C
p.Val261Ala
rs3796164
chr3
123419733
A
G
MYLK
c.2582T>C
p.Leu861Pro
rs3732486
chr3
123419573
G
T
MYLK
c.2742C>A
p.Asp914Glu
rs3732487
chr3
123419116
GTTC
G
MYLK
c.3196_3198delGAA
p.Glu1066del
rs75967604
chr3
81698130
T
C
GBE1
c.568A>G
.
rs2229519
chr3
81692065
C
G
GBE1
c.859G>C
.
rs116899644